一对近亲结婚夫妇所生女孩患顶枕叶胼胝体综合征。
Acrocallosal syndrome in a girl born to consanguineous parents.
作者信息
Salgado L J, Ali C A, Castilla E E
机构信息
Sección Genética, Centro de Educación Médica e Investigaciones Clínicas, La Plata, Argentina.
出版信息
Am J Med Genet. 1989 Mar;32(3):298-300. doi: 10.1002/ajmg.1320320303.
The present report describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger clinodactyly, postaxial polydactyly of the left hand, and bilateral hallux duplication. Partial agenesis of the corpus callosum and central diffuse cortical cerebral atrophy was documented on computed tomography. Chromosomes were normal. Parents were related as half first cousins. Their previous pregnancy had ended in a miscarriage. We suggest that this patient has an acrocallosal syndrome inherited as an autosomal recessive trait. This supports other recent reports that have considered this entity to differ from Greig cephalopolysyndactyly.
本报告描述了一名1岁女童，有巨头畸形、前额突出、眼距增宽、内眦赘皮反蒙古样倾斜、共同性斜视、视乳头萎缩、人中短、嘴唇突出、高拱腭、悬雍垂裂、躯干宽阔、乳头间距明显增宽、腹直肌分离、小脐疝、手指变细、第五指弯指畸形、左手轴后多指畸形以及双侧拇趾重复畸形。计算机断层扫描显示胼胝体部分发育不全和中央弥漫性皮质脑萎缩。染色体正常。父母为半第一代堂表亲关系。他们之前的妊娠以流产告终。我们认为该患者患有以常染色体隐性性状遗传的肢胼胝体综合征。这支持了其他近期报告，即认为该病症与Greig头多指综合征不同。
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